Global Variome shared LOVD

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Phenotype #0000161620 Individual ID 00213145 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details moderate intellectual disability (IQ48); autism spectrum disorder; no seizures; muscular hypotonia, ataxia; no microcephaly; cerebellar atrophy, white-matter hyperintensity in posterior limbs of internal capsules; scoliosis Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-01-11 21:59:14 +01:00 (CET) Date last edited N/A

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